18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature-Reference-Cited by-同舟云学术

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18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature

Published:2018-10-19 Issue:1 Volume:11 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Wang Chunjing,Ren Huanhuan,Dong Huaifu,Liang Meng,Wu Qi,Liao Yaping^ORCID

Funder

The Natural Science Foundation of the Higher Education Institutions of Anhui Province

The National Undergraduate Innovative Training Program

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-018-0404-2.pdf

Reference29 articles.

1. Feenstra I, Vissers LE, Orsel M, et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007;143(16):1858–67.

2. Cody JD, Heard PL, Crandall AC, et al. Narrowing critical regions and determining penetrance for selected 18q- phenotypes. Am J Med Genet A. 2009;149(7):1421–30.

3. Cody JD, Semrud-Clikeman M, Hardies LJ, et al. Growth hormone benefits children with 18q deletions. Am J Med Genet A. 2005;137(1):9–15.

4. Cody JD, Ghidoni PD, DuPont BR, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet. 1999;85(5):455–62.

5. Kulikowski LD, Yoshimoto M, da Silva Bellucco FT, et al. Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation. Eur J Med Genet. 2010;53(6):404–7.

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